Mooremcmillan5864

Among the different biomarkers predicting response in chronic lymphocytic leukemia (CLL), the most influential parameters are the mutational status of the IGHV genes and the presence of TP53 gene disruptions. Nevertheless, these important assessments are not readily available in most centers dealing with CLL patients. To provide this molecular testing across the country, the Spanish Cooperative Group on CLL (GELLC) established a network of four analytical reference centers. A total of 2153 samples from 256 centers were analyzed over a period of 30 months. In 9% of the patients, we found pathological mutations in the TP53 gene, whereas 48.96% were classified as IGHV unmutated. JAK inhibitor Results of the satisfaction survey of the program showed a Net Promoter Score of 85.15. Building a national network for molecular testing in CLL allowed the CLL population a broad access to complex biomarkers analysis that should translate into a more accurate and informed therapeutic decision-making.Patients with multiple myeloma (MM) report high symptom burden and functional disabilities resulting in impaired health-related quality of life (HRQoL). Effective evidence-based rehabilitation guidelines are needed for patients with MM to improve HRQoL. The primary aim of this study was to investigate HRQoL in patients with rehabilitation needs living their everyday life. Patients with MM in remission attended a 12-week multidisciplinary rehabilitation program including a 5-day residential course, home-based exercise and a 2-day follow-up course. The patients were referred by the treating haematologist and completed a booklet of validated HRQoL questionnaires at baseline and before arriving for the 2-day follow-up course. The proportion of participants with moderate to severe symptoms and functional problems were assessed at the two time points and multivariate logistic regression was used to investigate explaining factors of impaired HRQoL at baseline. Ninety-two patients participated with a follow-up compliance rate of 90%. Median age was 67 years and median time since diagnosis was 26 months (ranged 5 months to 15.6 years). The most frequently reported symptoms were global quality of life, role functioning, fatigue, pain, peripheral neuropathy and physical functioning. Pain and fatigue were both highly coherent with impairment in physical functioning and those two symptoms explained most HRQoL impairments. Overall, the participants reported no change in HRQoL after the 12-week rehabilitation program. The study supports the need for an evidence-based guideline for rehabilitation and palliative care to patients with MM in remission living their everyday life.SF3B1 is a highly mutated gene in myelodysplastic syndrome (MDS) patients, related to a specific subtype and parameters of good prognosis in MDS without excess blasts. More than 40% of MDS patients carry at least two myeloid-related gene mutations but little is known about the impact of concurrent mutations on the outcome of MDS patients. In applying next-generation sequencing (NGS) with a 117 myeloid gene custom panel, we analyzed the co-occurrence of SF3B1 with other mutations to reveal their clinical, biological, and prognostic implications in very low/low- and intermediate-risk MDS patients. Mutations in addition to those of SF3B1 were present in 80.4% of patients (median of 2 additional mutations/patient, range 0-5). The most frequently mutated genes were as follows TET2 (39.2%), DNMT3A (25.5%), SRSF2 (10.8%), CDH23 (5.9%), and ASXL1, CUX1, and KMT2D (4.9% each). The presence of at least two mutations concomitant with that of SF3B1 had an adverse impact on survival compared with those with the SF3B1 mutation and fewer than two additional mutations (median of 54 vs. 87 months, respectively p = 0.007). The co-occurrence of SF3B1 mutations with specific genes is also linked to a dismal prognosis SRSF2 mutations were associated with shorter overall survival (OS) than SRSF2wt (median, 27 vs. 75 months, respectively; p = 0.001), concomitant IDH2 mutations (median OS, 11 [mut] vs. 75 [wt] months; p = 0.001), BCOR mutations (median OS, 11 [mut] vs. 71 [wt] months; p = 0.036), and NUP98 and STAG2 mutations (median OS, 27 and 11 vs. 71 months, respectively; p = 0.008 and p = 0.002). Mutations in CHIP genes (TET2, DNMT3A) did not significantly affect the clinical features or outcome. Our results suggest that a more comprehensive NGS study in low-risk MDS SF3B1mut patients is essential for a better prognostic evaluation.The main goal of this article is to identify the main dimensions of a model proposal for increasing the potential of big data research in Healthcare for medical doctors' (MDs') learning, which appears as a major issue in continuous medical education and learning. The paper employs a systematic literature review of main scientific databases (PubMed and Google Scholar), using the VOSviewer software tool, which enables the visualization of scientific landscapes. The analysis includes a co-authorship data analysis as well as the co-occurrence of terms and keywords. The results lead to the construction of the learning model proposed, which includes four health big data key areas for MDs' learning 1) data transformation is related to the learning that occurs through medical systems; 2) health intelligence includes the learning regarding health innovation based on predictions and forecasting processes; 3) data leveraging regards the learning about patient information; and 4) the learning process is related to clinical decision-making, focused on disease diagnosis and methods to improve treatments. Practical models gathered from the scientific databases can boost the learning process and revolutionise the medical industry, as they store the most recent knowledge and innovative research.

CMV antigens have been detected in some brain tumors specially glioblastoma multiforme (GBM). As brain tumors in the first years of life are among the most aggressive neoplasms with poor prognosis, novel therapeutic options like targeted therapy against virus antigens are demanded. Infantile central nervous system tumors, other than GBM, have not been so far studied for CMV. To our best knowledge, this is the first study in which the presence of CMV-DNA, as a potential viral target for therapy, in non-GBM infantile brain tumors has been investigated.

The paraffin blocks of non-GBM brain neoplasms of 36 infants (age < 24 months) who were operated on between 2006 and 2016 were examined for CMV-DNA, using real-time polymerase chain reaction (PCR). Paraffin blocks of CMV infected lung tissue were used as positive control. Extraction and amplification of β2 microglobulin gene from each tumor tissue were carried as positive internal control. We also assayed 25 paraffin blocks of meningomyelocele for CMV DNA as negative tissue controls.